Canonical Allele Identifier: CA390087400

Gene: SIX6 C14orf39

Linked Data

• MyVariant Identifiers: chr14:g.60976603C>T (hg19) ; chr14:g.60509885C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60509885C>T , CM000676.2:g.60509885C>T	GRCh38
NC_000014.8:g.60976603C>T , CM000676.1:g.60976603C>T	GRCh37
NC_000014.7:g.60046356C>T	NCBI36
NG_008203.1:g.5666C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327720.6:c.487C>T (SIX6) MANE Select	ENSP00000328596.5:p.Gln163Ter
ENST00000327720.5:c.487C>T (SIX6)	ENSP00000328596.5:p.Gln163Ter
ENST00000556799.1:c.-144+5510G>A (C14orf39)	ENSP00000451441.1:n.-144+5510G>A
NM_007374.2:c.487C>T (SIX6)	NP_031400.2:p.Gln163Ter
NM_007374.3:c.487C>T (SIX6) MANE Select	NP_031400.2:p.Gln163Ter